A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv460n166



Internal ID22800359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134133994..134138125hg38UCSC Ensembl
chr11:134003889..134008020hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg384132
hg194132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4205261, nsv4206551
Samples
Known GenesJAM3
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)dgv460n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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